ClinVar Miner

Variants in gene TCOF1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
48 12 53 71 39 1 186

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Treacher Collins syndrome 1 34 4 15 23 21 1 96
Treacher Collins Syndrome, Dominant 0 0 30 45 2 0 77
not provided 14 8 9 6 4 0 40
not specified 0 0 0 22 26 0 33
See cases 3 0 0 0 0 0 3
Crouzon syndrome; Treacher Collins syndrome 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 30 45 2 0 77
Invitae 23 3 11 4 16 0 57
GeneDx 15 6 4 3 3 0 31
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 0 0 2 19 5 0 26
Genetic Services Laboratory, University of Chicago 3 0 0 16 1 0 20
PreventionGenetics 0 0 0 2 16 0 18
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 4 2 10 0 16
OMIM 11 0 0 0 0 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 5 2 0 7
Athena Diagnostics Inc 0 0 0 0 2 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
ISCA site 1 1 0 0 0 0 0 1
ISCA site 4 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1

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